Novel Jbts17 mutant mouse model of joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

Human Molecular Genetics

Volumn 24, Issue 14, 2015, Pages 3994-4005

  Damerla, Rama Rao ^a   Cui, Cheng ^a   Gabriel, George C ^a   Liu, Xiaoqin ^a   Craige, Branch ^b   Gibbs, Brian C ^a   Francis, Richard ^a   Li, You ^a   Chatterjee, Bishwanath ^a   San Agustin, Jovenal T ^b   Eguether, Thibaut ^b   Subramanian, Ramiah ^a   Witman, George B ^b   Michaud, Jacques L ^c   Pazour, Gregory J ^b   Lo, Cecilia W ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; JBTS17 PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; CEP290 PROTEIN, MOUSE; JBTS17 PROTEIN, MOUSE; MEMBRANE PROTEIN; NPHP1 PROTEIN, MOUSE; NUCLEAR PROTEIN;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE DYSPLASIA; CELL MIGRATION; CELL POLARITY; CEREBELLUM DISEASE; CILIA TRANSITION ZONE DEFECT; CONFOCAL MICROSCOPY; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; EYE MALFORMATION; FEMALE; FETUS; FIBROBLAST; IMMUNOHISTOCHEMISTRY; JOUBERT SYNDROME; KIDNEY CYST; MALE; MISSENSE MUTATION; MOUSE; MOUSE MUTANT; NEUROPATHOLOGY; NEWBORN; NONHUMAN; POLYDACTYLY; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; PULMONARY VALVE STENOSIS; STEREOCILIUM; ABNORMALITIES; AMINO ACID SEQUENCE; ANIMAL; C57BL MOUSE; CELL CULTURE; CEREBELLUM; CYTOLOGY; DISEASE MODEL; EUKARYOTIC FLAGELLUM; GENETICS; KIDNEY POLYCYSTIC DISEASE; METABOLISM; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; PREGNANCY; PROTEIN TRANSPORT; RETINA;

MUS;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; CARRIER PROTEINS; CELL POLARITY; CELLS, CULTURED; CEREBELLAR DISEASES; CEREBELLUM; CILIA; DISEASE MODELS, ANIMAL; EYE ABNORMALITIES; FEMALE; FIBROBLASTS; KIDNEY DISEASES, CYSTIC; MALE; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PREGNANCY; PROTEIN TRANSPORT; RETINA;

EID: 84936762345     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv137     Document Type: Article

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